Phenotype #0000159270

Individual ID 00210705
Associated disease ?
Diagnosis/Initial developmental delay
Diagnosis/Definite -
Phenotype details moderate-severe developmental delay; absence of language; no behavioral abnormalities ; no hypotonia; seizures; no movement disorder; MRI abnormal corpus callosum; no failure to thrive; sucking/feeding difficulty; thin/sparse scalp hair; no hypertrichosis; thick eyebrows; long eyelashes; ptosis; no thin upper lip vermilion; thick lower lip vermilion; abnormal palate; nose upturned/anteverted nostrils; 5th finger or toe/nails abnormaliy; no scoliosis; no ardiovascular abnormality; no inguinal hernia; no undescended testis; hyper pigmented irregular skin on back
Inheritance Isolated (sporadic)
Age/Examination 19y (19 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2018-12-28 14:25:32 +01:00 (CET)
Date last edited N/A

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